| Literature DB >> 2002480 |
P Labrune1, P Huguet, D Alagille, M Odievre.
Abstract
Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect could be detected.Entities:
Mesh：
Year: 1991 PMID： 2002480 PMCID： PMC1016779 DOI： 10.1136/jmg.28.2.114
Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318